Variants in complement regulatory genes predict age-related macular degeneration

Abstract

Methods for identifying a subject at risk for developing AMD are disclosed, as are kits which can be used to practice the methods. The methods include identifying specific protective or risk polymorphisms or genotypes from the subject's genetic material, including polymorphisms in the BF, C2 and/or CFH genes. Microarrays and kits for use in these methods are also provided.

1. A method for assessing the risk of development of, or likely progression of, age-related macular degeneration (AMD) in a human subject, the method comprising
 determining whether the subject carries one or more of:
 a) A or G at rs641153 of the complement factor B (BF) gene, or R or Q at position 32 of the BF protein; 
 b) A or T at rs4151667 of the BF gene, or L or H at position 9 of the BF protein; 
 c) G or T at rs547154 of the C2 gene; and 
 d) C or G at rs9332739 of the C2 gene, or E or D at position 318 of the C2 protein. 
 
 
     
     
       2. The method of  claim 1  further comprising determining whether the subject carries one or more of:
 a) deITT in the complement factor H (CFH) gene; and 
 b) C or T at rs1061170 of the CFH gene, or Y or H at position 402 of the CFH protein. 
 
     
     
       3. The method of  claim 1 , wherein the subject is asymptomatic of age-related macular degeneration. 
     
     
       4. The method of  claim 1 , wherein the subject has symptoms of age-related macular degeneration. 
     
     
       5. The method of  claim 1  comprising detecting a genotype from a cell of the subject. 
     
     
       6. The method of  claim 5  further comprising determining whether the subject is homozygous or heterozygous for a said polymorphism. 
     
     
       7. The method of  claim 1  comprising detecting a protein variant in the subject. 
     
     
       8. The method of  claim 1  comprising detecting mRNA from a cell of the subject. 
     
     
       9. The method of  claim 1  comprising the step of obtaining a biological sample from a human subject. 
     
     
       10. The method of  claim 9 , wherein the sample is a body fluid.